PPARG c.334T>C ;(p.C112R)

Variant ID: 3-12422934-T-C

NM_138711.3(PPARG):c.334T>C;(p.C112R)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes.

Nature Communications
Akbari, Parsa P; Sosina, Olukayode A OA; Bovijn, Jonas J; Landheer, Karl K; Nielsen, Jonas B JB; Kim, Minhee M; Aykul, Senem S; De, Tanima T; Haas, Mary E ME; Hindy, George G; Lin, Nan N; Dinsmore, Ian R IR; Luo, Jonathan Z JZ; Hectors, Stefanie S; Geraghty, Benjamin B; Germino, Mary M; Panagis, Lampros L; Parasoglou, Prodromos P; Walls, Johnathon R JR; Halasz, Gabor G; Atwal, Gurinder S GS; , ; , ; Jones, Marcus M; LeBlanc, Michelle G MG; Still, Christopher D CD; Carey, David J DJ; Giontella, Alice A; Orho-Melander, Marju M; Berumen, Jaime J; Kuri-Morales, Pablo P; Alegre-Díaz, Jesus J; Torres, Jason M JM; Emberson, Jonathan R JR; Collins, Rory R; Rader, Daniel J DJ; Zambrowicz, Brian B; Murphy, Andrew J AJ; Balasubramanian, Suganthi S; Overton, John D JD; Reid, Jeffrey G JG; Shuldiner, Alan R AR; Cantor, Michael M; Abecasis, Goncalo R GR; Ferreira, Manuel A R MAR; Sleeman, Mark W MW; Gusarova, Viktoria V; Altarejos, Judith J; Harris, Charles C; Economides, Aris N AN; Idone, Vincent V; Karalis, Katia K; Della Gatta, Giusy G; Mirshahi, Tooraj T; Yancopoulos, George D GD; Melander, Olle O; Marchini, Jonathan J; Tapia-Conyer, Roberto R; Locke, Adam E AE; Baras, Aris A; Verweij, Niek N; Lotta, Luca A LA
Publication Date: 2022-08-23

Variant appearance in text: PPARG: 340T>C; Cys114Arg
PubMed Link: 35999217
Variant Present in the following documents:
  • 41467_2022_32398_MOESM4_ESM.xlsx, sheet 4
View BVdb publication page



GEOMetaCuration: a web-based application for accurate manual curation of Gene Expression Omnibus metadata.

Database : The Journal Of Biological Databases And Curation
Li, Zhao Z; Li, Jin J; Yu, Peng P
Publication Date: 2018-01-01

Variant appearance in text: PPARgamma: C114R
PubMed Link: 29688376
Variant Present in the following documents:
  • bay019_supp.xlsx, sheet 2
View BVdb publication page



Nutrigenomic Functions of PPARs in Obesogenic Environments.

Ppar Research
Chung, Soonkyu S; Kim, Young Jun YJ; Yang, Soo Jin SJ; Lee, Yunkyoung Y; Lee, Myoungsook M
Publication Date: 2016

Variant appearance in text: NR1C3: Cys114Arg
PubMed Link: 28042289
Variant Present in the following documents:
  • PPAR2016-4794576.pdf
View BVdb publication page



Analysis of RXR/THR and RXR/PPARG2 heterodimerization by bioluminescence resonance energy transfer (BRET).

Plos One
Mulero, Miquel M; Perroy, Julie J; Federici, Carole C; Cabello, Gérard G; Ollendorff, Vincent V
Publication Date: 2013

Variant appearance in text: PPARG2: C114R
PubMed Link: 24391967
Variant Present in the following documents:
  • Main text
  • pone.0084569.pdf
View BVdb publication page



PPARG: Gene Expression Regulation and Next-Generation Sequencing for Unsolved Issues.

Ppar Research
Costa, Valerio V; Gallo, Maria Assunta MA; Letizia, Francesca F; Aprile, Marianna M; Casamassimi, Amelia A; Ciccodicola, Alfredo A
Publication Date: 2010

Variant appearance in text: PPARG: Cys114Arg
PubMed Link: 20871817
Variant Present in the following documents:
  • Main text
  • PPAR2010-409168.pdf
View BVdb publication page



PPARgamma in human and mouse physiology.

Biochimica Et Biophysica Acta
Heikkinen, Sami S; Auwerx, Johan J; Argmann, Carmen A CA
Publication Date: 2007-08

Variant appearance in text: PPARgamma: Cys114Arg
PubMed Link: 17475546
Variant Present in the following documents:
  • Main text
View BVdb publication page



Non-DNA binding, dominant-negative, human PPARgamma mutations cause lipodystrophic insulin resistance.

Cell Metabolism
Agostini, Maura M; Schoenmakers, Erik E; Mitchell, Catherine C; Szatmari, Istvan I; Savage, David D; Smith, Aaron A; Rajanayagam, Odelia O; Semple, Robert R; Luan, Jian'an J; Bath, Louise L; Zalin, Anthony A; Labib, Mourad M; Kumar, Sudhesh S; Simpson, Helen H; Blom, Dirk D; Marais, David D; Schwabe, John J; Barroso, Inês I; Trembath, Richard R; Wareham, Nicholas N; Nagy, Laszlo L; Gurnell, Mark M; O'Rahilly, Stephen S; Chatterjee, Krishna K
Publication Date: 2006-10

Variant appearance in text: PPARG: C114R
PubMed Link: 17011503
Variant Present in the following documents:
  • Main text
View BVdb publication page